RYR1-related myopathies: A wide spectrum of phenotypes throughout life

European Journal of Neurology

Volumn 22, Issue 7, 2015, Pages 1094-1112

  Snoeck, M ^a   van Engelen, B G M ^b   Kusters B ^b,c   Lammens, M ^b,d   Meijer, R ^b   Molenaar, J P F ^b   Raaphorst, J ^b,e   Verschuuren Bemelmans, C C ^f   Straathof, C S M ^g   Sie, L T L ^h   de Coo, I F ⁱ   van der Pol, W L ^j   de Visser, M ^e   Scheffer, H ^b   Treves, S ^k   Jungbluth, H ^l,m,n   Voermans, N C ^b   Kamsteeg, E J ^b  

^a CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^g LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^h JULIANA CHILDREN S HOSPITAL   (Netherlands)

ⁱ ERASMUS MEDICAL CENTER   (Netherlands)

^j UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^k UNIVERSITY HOSPITAL BASEL   (Switzerland)

^l EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^m KING'S COLLEGE LONDON   (United Kingdom)

ⁿ KING'S COLLEGE LONDON   (United Kingdom)

more..

Author keywords

RYR1; Anaesthesia; Congenital myopathy; Core myopathy; Malignant hyperthermia susceptibility; Ryanodine receptor

Indexed keywords

RYANODINE RECEPTOR 1; RYANODINE RECEPTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; CROSS-SECTIONAL STUDY; FAMILY HISTORY; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IN VITRO STUDY; INFANT; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MALIGNANT HYPERTHERMIA; MIDDLE AGED; MOLECULAR GENETICS; MYOPATHY; NEWBORN; OBSERVATIONAL STUDY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; RHABDOMYOLYSIS; SCHOOL CHILD; YOUNG ADULT; GENETICS; MUSCULAR DISEASES; MUTATION; PEDIGREE;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MALIGNANT HYPERTHERMIA; MIDDLE AGED; MUSCULAR DISEASES; MUTATION; PEDIGREE; PHENOTYPE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; YOUNG ADULT;

EID: 84930755719     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/ene.12713     Document Type: Article

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